Varaico: Literature-Extracted Genetic Variants

Gene:ELF3
Variant:p.E262K
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ELF3

NM_004433.5:p.E262K

Associated Papers

Can genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset type II glycogenosis?

Ravaglia S et al.

Molecular Genetics and Metabolism, 2012

Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.

Pittis MG et al.

Human Mutation, 2008

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."